List of variants in gene COL11A1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.3024+13T>C	rs201141572	0.00172
NM_001854.4(COL11A1):c.*17A>G	rs190728953	0.00152
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)	rs183130583	0.00088
NM_001854.4(COL11A1):c.2295+6G>A	rs372529718	0.00016
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)	rs369925361	0.00012
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=)	rs369265343	0.00011
NM_001854.4(COL11A1):c.1309-7G>A	rs748684225	0.00002
NM_001854.4(COL11A1):c.4609-8C>A	rs777390779	0.00001
NM_001854.4(COL11A1):c.106+8A>G
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)	rs141817156
NM_001854.4(COL11A1):c.1309-4A>T
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.1792-17T>C	rs2101851501
NM_001854.4(COL11A1):c.1945-19C>T	rs1571000550
NM_001854.4(COL11A1):c.2196+17T>C
NM_001854.4(COL11A1):c.2394+12G>T
NM_001854.4(COL11A1):c.2809-19T>C
NM_001854.4(COL11A1):c.2864G>C (p.Gly955Ala)
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp)	rs778331804

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.